ADHDgene Database
  • Published Variant
  • Published Gene: 359
  • Published Region: 128
  • Pathway by PBA: 8
  • Study: 361

KEGG Pathway Report

Basic Info
ID hsa03420
Name Nucleotide excision repair
Description  Nucleotide excision repair (NER) is a mechanism to recognize and repair bulky DNA damage caused by compounds, environmental carcinogens, and exposure to UV-light. In humans hereditary defects in the NER pathway are linked to at least three diseases: xeroderma pigmentosum (XP), Cockayne syndrome (CS), and trichothiodystrophy (TTD). The repair of damaged DNA involves at least 30 polypeptides within two different sub-pathways of NER known as transcription-coupled repair (TCR-NER) and global genome repair (GGR-NER). TCR refers to the expedited repair of lesions located in the actively transcribed strand of genes by RNA polymerase II (RNAP II). In GGR-NER the first step of damage recognition involves XPC-hHR23B complex together with XPE complex (in prokaryotes, uvrAB complex). The following steps of GGR-NER and TCR-NER are similar.
No. of Genes in ADHDgene  9
Source Pathway by Database Search

Pathway related genes in ADHDgene (count: 9)

Literature-origin genes (count: 0)

Genes from other sources Help(count: 9)

Approved Symbol Approved Name Location Source
GTF2H3 general transcription factor IIH, polypeptide 3, 34kDa 12q24.31 Mapped by CNV
DDB1 damage-specific DNA binding protein 1, 127kDa 11q12-q13 Mapped by significant region
ERCC8 excision repair cross-complementing rodent repair deficiency, complementation group 8 5q12.1 Mapped by CNV
POLE polymerase (DNA directed), epsilon 12q24.3 Mapped by CNV
POLD3 polymerase (DNA-directed), delta 3, accessory subunit 11q14 Mapped by significant region
POLD4 polymerase (DNA-directed), delta 4 11q13 Mapped by significant region
XPA xeroderma pigmentosum, complementation group A 9q22.3 Mapped by significant region
POLE3 polymerase (DNA directed), epsilon 3 (p17 subunit) 9q33 Mapped by significant region
RAD23B RAD23 homolog B (S. cerevisiae) 9q31.2 Mapped by significant region